Incidental Mutation 'R3800:Aire'
ID 272934
Institutional Source Beutler Lab
Gene Symbol Aire
Ensembl Gene ENSMUSG00000000731
Gene Name autoimmune regulator
Synonyms
MMRRC Submission 040759-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3800 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 77865856-77879444 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 77877889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019257] [ENSMUST00000105395] [ENSMUST00000105396] [ENSMUST00000128241] [ENSMUST00000130972] [ENSMUST00000131028] [ENSMUST00000155021] [ENSMUST00000140636] [ENSMUST00000145975] [ENSMUST00000156417] [ENSMUST00000148469] [ENSMUST00000154374] [ENSMUST00000143735] [ENSMUST00000138785]
AlphaFold Q9Z0E3
Predicted Effect probably benign
Transcript: ENSMUST00000019257
SMART Domains Protein: ENSMUSP00000019257
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 8.9e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 299 342 6.75e-11 SMART
RING 300 341 3.63e0 SMART
low complexity region 398 419 N/A INTRINSIC
PHD 432 475 7.82e-7 SMART
RING 433 474 2.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105395
SMART Domains Protein: ENSMUSP00000101034
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 1.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 300 343 6.75e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105396
SMART Domains Protein: ENSMUSP00000101035
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 2.2e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 299 342 6.75e-11 SMART
RING 300 341 3.63e0 SMART
PHD 373 416 7.82e-7 SMART
RING 374 415 2.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128241
SMART Domains Protein: ENSMUSP00000114904
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 5 104 3.3e-27 PFAM
SAND 198 264 2.61e-26 SMART
PHD 300 343 6.75e-11 SMART
RING 301 342 3.63e0 SMART
low complexity region 399 420 N/A INTRINSIC
PHD 433 476 7.82e-7 SMART
RING 434 475 2.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130972
SMART Domains Protein: ENSMUSP00000122659
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 2.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 295 338 6.75e-11 SMART
RING 296 337 3.63e0 SMART
low complexity region 394 415 N/A INTRINSIC
PHD 428 471 7.82e-7 SMART
RING 429 470 2.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131028
SMART Domains Protein: ENSMUSP00000114808
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 5 57 2.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135316
Predicted Effect probably benign
Transcript: ENSMUST00000155021
SMART Domains Protein: ENSMUSP00000122190
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 2.2e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 295 338 6.75e-11 SMART
RING 296 337 3.63e0 SMART
PHD 369 412 7.82e-7 SMART
RING 370 411 2.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140636
SMART Domains Protein: ENSMUSP00000121477
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 1.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 295 338 6.75e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145975
SMART Domains Protein: ENSMUSP00000120150
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 2.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 296 339 6.75e-11 SMART
RING 297 338 3.63e0 SMART
low complexity region 395 416 N/A INTRINSIC
PHD 429 472 7.82e-7 SMART
RING 430 471 2.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156417
SMART Domains Protein: ENSMUSP00000115162
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 1.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 299 342 6.75e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148469
SMART Domains Protein: ENSMUSP00000118317
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 1.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 296 339 6.75e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154374
SMART Domains Protein: ENSMUSP00000117094
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 7.4e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 300 343 6.75e-11 SMART
RING 301 342 3.63e0 SMART
PHD 374 417 7.82e-7 SMART
RING 375 416 2.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143735
SMART Domains Protein: ENSMUSP00000123678
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 1.1e-34 PFAM
SAND 198 264 2.61e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143548
Predicted Effect probably null
Transcript: ENSMUST00000138785
SMART Domains Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730

DomainStartEndE-ValueType
low complexity region 22 32 N/A INTRINSIC
PDB:2PVC|C 38 415 1e-163 PDB
SCOP:d1fp0a1 123 191 5e-3 SMART
Blast:RING 130 179 1e-18 BLAST
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 95% (52/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
PHENOTYPE: Targeted mutations that inactivate the gene result in immune system dysfunction characterized by multiorgan lymphocytic infiltration and circulating autoantibodies. Whereas one line is fertile, another exhibits male and female sterility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,385,025 (GRCm39) D313E possibly damaging Het
Abca12 C T 1: 71,305,046 (GRCm39) V2070I probably damaging Het
Adam23 C T 1: 63,590,933 (GRCm39) R467* probably null Het
Adgrf5 T C 17: 43,757,951 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgap28 T C 17: 68,180,031 (GRCm39) D268G probably damaging Het
Btbd9 T C 17: 30,732,633 (GRCm39) I351V possibly damaging Het
Cacna1b C T 2: 24,548,971 (GRCm39) R1138Q probably benign Het
Caskin1 T G 17: 24,720,246 (GRCm39) V456G probably benign Het
Ccdc96 A G 5: 36,643,611 (GRCm39) D539G probably damaging Het
Cep290 T C 10: 100,408,803 (GRCm39) I2425T probably damaging Het
Cfap251 T C 5: 123,392,784 (GRCm39) probably benign Het
Col18a1 C A 10: 76,903,221 (GRCm39) G998* probably null Het
Cpe A G 8: 65,070,651 (GRCm39) V198A probably benign Het
Cux1 A G 5: 136,344,887 (GRCm39) M364T probably damaging Het
Dock8 T A 19: 25,141,716 (GRCm39) N1396K probably benign Het
Dync2h1 A C 9: 7,101,525 (GRCm39) F482V possibly damaging Het
Eif1ad19 T C 12: 87,740,491 (GRCm39) K23E possibly damaging Het
Fat4 T A 3: 39,035,423 (GRCm39) V3025E possibly damaging Het
Fbn1 T A 2: 125,187,894 (GRCm39) D1545V possibly damaging Het
Fbxw16 T G 9: 109,265,665 (GRCm39) I385L probably damaging Het
Fnbp1 T C 2: 30,923,143 (GRCm39) E341G probably damaging Het
Gm9845 T C 3: 39,412,642 (GRCm39) noncoding transcript Het
Gmps T C 3: 63,889,866 (GRCm39) Y82H possibly damaging Het
Habp4 C T 13: 64,321,917 (GRCm39) R185C probably damaging Het
Ift122 T A 6: 115,902,867 (GRCm39) S1209T probably benign Het
Ino80c T C 18: 24,254,752 (GRCm39) Y36C probably damaging Het
Inpp5b C T 4: 124,679,138 (GRCm39) T515I probably damaging Het
Kcnj6 G A 16: 94,633,886 (GRCm39) T75M probably damaging Het
Map2k4 A T 11: 65,581,607 (GRCm39) Y368* probably null Het
Mbd6 A G 10: 127,121,036 (GRCm39) probably benign Het
Mccc1 G A 3: 36,054,658 (GRCm39) R17W probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ncoa3 T C 2: 165,901,639 (GRCm39) M1004T possibly damaging Het
Npnt C A 3: 132,612,524 (GRCm39) G87V probably damaging Het
Or10a4 C T 7: 106,696,938 (GRCm39) Q89* probably null Het
Or14j1 T G 17: 38,146,848 (GRCm39) N319K probably benign Het
Ppp2r1a A T 17: 21,182,972 (GRCm39) D552V possibly damaging Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rnf34 A G 5: 123,002,273 (GRCm39) H77R probably damaging Het
Samm50 T C 15: 84,076,575 (GRCm39) V4A probably damaging Het
Sdccag8 A T 1: 176,695,904 (GRCm39) R403* probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Senp6 A G 9: 79,994,735 (GRCm39) R25G possibly damaging Het
Shc2 C T 10: 79,462,707 (GRCm39) V272I probably benign Het
Smarcd3 T A 5: 24,798,225 (GRCm39) K403* probably null Het
Srgap2 T A 1: 131,238,297 (GRCm39) I672F probably damaging Het
Ttn C T 2: 76,582,941 (GRCm39) V22651I probably damaging Het
Ubash3a T C 17: 31,450,444 (GRCm39) V373A probably benign Het
Vav3 A G 3: 109,535,355 (GRCm39) K36E probably benign Het
Vmn2r65 A G 7: 84,589,738 (GRCm39) V726A possibly damaging Het
Other mutations in Aire
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01744:Aire APN 10 77,872,557 (GRCm39) nonsense probably null
IGL01969:Aire APN 10 77,878,816 (GRCm39) missense probably damaging 1.00
Million UTSW 10 77,873,809 (GRCm39) missense probably damaging 1.00
BB008:Aire UTSW 10 77,866,130 (GRCm39) missense probably damaging 1.00
BB018:Aire UTSW 10 77,866,130 (GRCm39) missense probably damaging 1.00
E0370:Aire UTSW 10 77,877,897 (GRCm39) missense probably damaging 1.00
IGL03055:Aire UTSW 10 77,878,903 (GRCm39) missense probably damaging 1.00
R0326:Aire UTSW 10 77,878,433 (GRCm39) missense probably damaging 1.00
R0675:Aire UTSW 10 77,870,327 (GRCm39) splice site probably benign
R1748:Aire UTSW 10 77,879,314 (GRCm39) missense probably damaging 0.99
R1754:Aire UTSW 10 77,866,124 (GRCm39) missense probably damaging 1.00
R2014:Aire UTSW 10 77,878,792 (GRCm39) missense probably damaging 1.00
R2015:Aire UTSW 10 77,878,792 (GRCm39) missense probably damaging 1.00
R5424:Aire UTSW 10 77,872,553 (GRCm39) missense probably damaging 1.00
R5517:Aire UTSW 10 77,875,525 (GRCm39) missense probably benign 0.14
R5983:Aire UTSW 10 77,878,903 (GRCm39) missense probably damaging 1.00
R6135:Aire UTSW 10 77,878,801 (GRCm39) missense probably damaging 1.00
R6856:Aire UTSW 10 77,866,089 (GRCm39) missense probably damaging 1.00
R7405:Aire UTSW 10 77,870,447 (GRCm39) missense probably benign 0.01
R7484:Aire UTSW 10 77,878,404 (GRCm39) missense probably damaging 1.00
R7606:Aire UTSW 10 77,873,767 (GRCm39) missense probably damaging 1.00
R7931:Aire UTSW 10 77,866,130 (GRCm39) missense probably damaging 1.00
R8867:Aire UTSW 10 77,873,809 (GRCm39) missense probably damaging 1.00
R8887:Aire UTSW 10 77,870,298 (GRCm39) missense probably damaging 0.96
R9115:Aire UTSW 10 77,879,309 (GRCm39) missense
R9562:Aire UTSW 10 77,871,579 (GRCm39) missense probably benign
R9623:Aire UTSW 10 77,873,809 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGAGGAACAGGGATAGTTTC -3'
(R):5'- ATCTGACCCTTACCAGCTGC -3'

Sequencing Primer
(F):5'- CTGGGCTGGCTAGAAGATTG -3'
(R):5'- GACCCTTACCAGCTGCTCTCTC -3'
Posted On 2015-03-25